Preferred Name

Congenital Hepatic Fibrosis

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97071

code

C97071

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

Contributing_Source

Cellosaurus

DEFINITION

A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts.

FULL_SYN

Congenital Hepatic Fibrosis

label

Congenital Hepatic Fibrosis

Preferred_Name

Congenital Hepatic Fibrosis

prefixIRI

Thesaurus:C97071

prefLabel

Congenital Hepatic Fibrosis

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0009714

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97171

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53550

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0002612 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU075070 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM